NKX6-1 Gene Summary [Human]
In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | NKX6-1 |
| Official Name | NK6 homeobox 1 [Source:HGNC Symbol;Acc:HGNC:7839] |
| Ensembl ID | ENSG00000163623 |
| Bio databases IDs | |
| Aliases | NK6 homeobox 1 |
| Synonyms | NK6 homeobox 1, NKX6.1, NKX6A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NKX6-1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- chromatin binding
- transcription factor binding
- sequence-specific DNA binding
- negative regulation of DNA-binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- homeodomain
- transcription factor activity
- TN domain
Pathways
Biological processes and signaling networks where the NKX6-1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- motor dysfunction or movement disorder
- paralysis
role in cell
- number
- expression in
- quantity
- proliferation
- regeneration
- development
- migration
- differentiation
- extension
- conversion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cytosol
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NKX6-1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription from RNA polymerase II promoter
- positive regulation of neuron differentiation
- central nervous system neuron differentiation
- response to xenobiotic stimulus
- positive regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- pancreatic A cell differentiation
- negative regulation of oligodendrocyte differentiation
- positive regulation of oligodendrocyte differentiation
- negative regulation of transcription from RNA polymerase II promoter
- type B pancreatic cell maturation
- type B pancreatic cell proliferation
- cellular response to peptide hormone stimulus
- positive regulation of type B pancreatic cell development
- positive regulation of insulin secretion
- glucose mediated signaling pathway
- regulation of neuron migration
- pancreas development
- oligodendrocyte differentiation
- smoothened signaling pathway
- response to nicotine
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- regulation of axon extension
- cell differentiation
- cellular response to cytokine stimulus
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- chromatin binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity